Revel Score:
ENST00000430702
0.053
ENST00000257527 (MANE Select)
0.053
ENST00000394020
0.053
ENST00000517905
0.053
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157509354A>T , CM000667.2:g.157509354A>T | GRCh38 |
| NC_000005.9:g.156936362A>T , CM000667.1:g.156936362A>T | GRCh37 |
| NC_000005.8:g.156868940A>T | NCBI36 |
| NG_046960.1:g.71470T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257527.9:c.852T>A MANE Select | ENSP00000257527.5:p.Ser284Arg | |
| ENST00000257527.8:c.852T>A | ENSP00000257527.4:p.Ser284Arg | |
| ENST00000517905.1:c.852T>A | ENSP00000428654.1:p.Ser284Arg | |
| ENST00000517951.5:c.*43T>A | ENSP00000428376.1:n.*43T>A | |
| NM_033274.4:c.852T>A | NP_150377.1:p.Ser284Arg | |
| XM_005266003.2:c.852T>A | XP_005266060.1:p.Ser284Arg | |
| XM_011534680.1:c.51T>A | XP_011532982.1:p.Ser17Arg | |
| XM_011534681.1:c.51T>A | XP_011532983.1:p.Ser17Arg | |
| XM_011534682.1:c.51T>A | XP_011532984.1:p.Ser17Arg | |
| XM_011534682.2:c.51T>A | XP_011532984.1:p.Ser17Arg | |
| XM_017010009.1:c.51T>A | XP_016865498.1:p.Ser17Arg | |
| NM_033274.5:c.852T>A MANE Select | NP_150377.1:p.Ser284Arg |